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Phenylketonuria or PKU is a rare metabolic disease that can lead to severe brain disorders caused by the accumulation of the amino acid phenylalanine to toxic levels in the blood and brain. Find our complete video library only on Osmosis Prime: 🤍 Hundreds of thousands of current & future clinicians learn by Osmosis. We have unparalleled tools and materials to prepare you to succeed in school, on board exams, and as a future clinician. Sign up for a free trial at 🤍 Subscribe to our Youtube channel at 🤍 Get early access to our upcoming video releases, practice questions, giveaways, and more when you follow us on social media: Facebook: 🤍 Twitter: 🤍 Instagram: 🤍 Our Vision: Everyone who cares for someone will learn by Osmosis. Our Mission: To empower the world’s clinicians and caregivers with the best learning experience possible. Learn more here: 🤍 Medical disclaimer: Knowledge Diffusion Inc (DBA Osmosis) does not provide medical advice. Osmosis and the content available on Osmosis's properties (Osmosis.org, YouTube, and other channels) do not provide a diagnosis or other recommendation for treatment and are not a substitute for the professional judgment of a healthcare professional in diagnosis and treatment of any person or animal. The determination of the need for medical services and the types of healthcare to be provided to a patient are decisions that should be made only by a physician or other licensed health care provider. Always seek the advice of a physician or other qualified healthcare provider with any questions you have regarding a medical condition.
Kay Emerson, one of the first patients treated successfully for the PKU disorder in the United States, talks about researcher Dr. Harry Waisman. Waisman championed mandatory screening and treatment of the condition of Phenylketonuria, saving thousands from developmental disability. Producer: Justin Bomberg
As infants, Chase Herndon and Gordon Lester were diagnosed with phenylketonuria (PKU), a rare genetic disorder that causes an inability to break down the amino acid phenylalanine. Because phenylalanine is present in all forms of protein, PKU patients must follow a restricted diet extremely low in protein which can make everyday life a little more difficult than for the average person.
PKU Treatment Series - The Diet: In this video, you will hear from Morgan, PKU patient, as she provides her experiences and shares her stories on how she successfully treats her PKU with diet. You will also hear from Dr. Shawn McCandless and Laurie Bernstein, MS, RD, FADA, FAND from Children’s Hospital Colorado IMD Clinic who provide the clinical perspective for treating PKU.
My name is Kevin Alexander, I'm 31 years old, and I have PKU, also known as Phenylketonuria. This is my story. Help us caption & translate this video! 🤍
Lex Cowsert, Ph.D., NPKUA Director of Research Development, provides an overview of the goal of gene therapy and what to expect during the gene therapy trials. This is video 3 from our 6-part series on gene therapy to help PKU patients and the general public understand and demystify some of the concepts related to gene therapy in PKU. Don’t forget to read our 5-Year Scientific Strategic Plan 🤍 the perfect complement to our gene therapy video series.
Shawn Christ, PhD, of the department of psychological sciences at the University of Missouri discusses the pathophysiological changes in the brain of a patient with phenylketonuria (PKU), a rare genetic disorder that causes a build up of phenylalanine in the body. People with PKU need to follow a strict diet that limits phenylalanine in order to limit changes to the brain's chemistry and anatomy. This interview was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.
Learn about key details with animation on Phenylketonuria Amino Acids Bio Synthesis 🤍 #Phenylketonuria #PKU #GeneticDisorders #MentalRetardation #Neuron #PAH #AminoAcids
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At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care. For an appointment, consultation, or patient referral with an expert at Children’s Hospital of Pittsburgh of UPMC for a child diagnosed with PKU, please contact: Jodie Vento, MGC, LCGC Phone: +1-412-692-RARE or 412-692-7273 Email: RareCare🤍chp.edu
PKU is een zeldzame, erfelijke stofwisselingsziekte. Hoe ervaart een tiener met PKU het leven met deze aandoening? Wist u dat de Stichting PKU research (🤍pku-research.nl) zich bezig houdt met initieren en stimuleren van onderzoek naar PKU? Wist u dat de Nederlandse PKU vereniging zich bezighoudt met voorlichting, belangenbehartiging en lotgenotencontact voor PKU patienten? 🤍pkuvereniging.nl
A view into the Mullen's family life and how living with PKU does not slow down Allyson's 2 sons, Quinn or Brady. Allyson shares their experiences with the PKU diet, their daily PKU formula routine, how she's communicated with other family members and teachers about the PKU diet and more.
A toddler must have a protein restricted diet due to the rare metabolic condition PKU. With this condition, protein becomes neurotoxic to the person. Without this extreme diet, the brain suffers severe damage in the first years of life, resulting in mental retardation. The video is a very personal (and whacky) explanation of what I have to do as a mother of a child with PKU.
Shawn Christ, PhD, of the department of psychological sciences at the University of Missouri discusses how neurochemistry of the phenylketonuria (PKU) brain likely plays a role in the psychosocial changes seen in PKU patients not adhering to treatment. This interview was made possible by a sponsorship from BioMarin Pharmaceutical Inc. Rare Disease Report has sole control over the editorial content.
PKU女孩 得了一種不能吃肉的病，叫做『苯酮尿症』，英文簡稱PKU 這是一種遺傳代謝疾病，身體無法代謝這種胺基酸，這種胺基酸存在各種食物，尤其是豆魚蛋肉奶中。 不僅不能吃肉，還有很多食物都需要注意， 患有這種疾病該如何生活呢？ PKU女孩來告訴你~ 「你會知道你跟別人不一樣，但不一樣並沒有關係，因為不一樣，也很棒。」 懂這個疾病的人很少，但多了一個你，會更好。 #PKU #PKU女孩 #苯酮尿症 #Phenylketonuria ❐ 訂閱PKU女孩人生的酸甜苦辣 ❏ 點擊訂閱開鈴鐺: 🤍
PKU Treatment Series - Kuvan: In this video, you will hear from Kevin, PKU patient, as he provides his experiences and shares his stories on how he successfully treats his PKU with KUVAN. You will also hear from Dr. Shawn McCandless and Laurie Bernstein, MS, RD, FADA, FAND from Children’s Hospital Colorado IMD Clinic who provide the clinical perspective for treating PKU.
Phenylketonuria (PKU) is Diet-for-Life. Take action now to get re-started. You are not alone, Nutricia can help. Visit 🤍DietForLife.com or email DietforLife🤍Nutricia.com to find out more. Always consult a metabolic healthcare professional prior to making any changes to your PKU diet.
Hoy, en el Día mundial de las enfermedades raras, te contamos todo acerca de la fenilcetonuria, una enfermedad hereditaria y que no tiene cura. ¿Imaginas tener que medir GRAMO a GRAMO lo que comes? ¡Descubre todo sobre esta enfermedad rara en el vídeo! Si quieres saber más sobre este proyecto y hacer un donativo entra en - Pku Film: 🤍 #PKUTomemosMedidas #PKU #EnfermedadRara #DrawMyLife Suscríbete para seguir disfrutando de nuestros vídeos: 🤍 Otros vídeos que no debes perderte en #DrawMyLife : EL RETRATO de DORIAN GRAY | RESUMEN: 🤍 UN APOCALIPSIS ZOMBIE LLEGÓ A MI COLEGIO: 🤍 ANSIEDAD | TRASTORNO: TODO lo que TIENES QUE SABER: 🤍 DEATH STRANDING | Lo NUEVO de HIDEO KOJIMA: 🤍 EXPERIMENTO MILGRAM: 🤍 La FENILCETONURIA (PKU) | ENFERMEDADES RARAS | Draw My Life: 🤍 Y si lo que te gustan son los vídeos creepy, no lo dudes y sigue nuestro canal más creepypasta, Creepy Club: 🤍 Descubre los vídeos de Draw My Life más creepy del canal: 🤍 ☟ ¡SÍGUENOS AQUÍ! ☟ ☛ Facebook (🤍DrawMyLifeES): 🤍 ☛ Twitter (🤍DrawMyLife_ES): 🤍 ☛ Instagram(🤍DrawMyLife_ES): 🤍 Producido por 2btube Contacto para consultas, peticiones o licencias: dml🤍2btalent.com Y si te gusta el fútbol suscríbete a CAMPEONES: 🤍
Meet Kevin, a father who describes what it was like to grow up with PKU. PKU is a birth defect that affects both the mind and body, and it caused many challenges for Kevin in childhood and adulthood. BioMarin strives to support patients like Kevin who live with rare diseases like PKU. BioMarin is a global biotechnology company focused on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with serious and life-threatening rare genetic diseases. 🤍 🤍 🤍 🤍
Phenylketonuria (PKU) is caused by a mutation to a recessive gene on chromosome 12. This gene would normally convert the amino acid phenylalanine into the amino acid tyrosine, which is necessary for healthy brain development. People with PKU who have a mutation to this gene are unable to produce the enzyme and therefore unable to convert phenylalanine to tyrosine. This leads to increased concentrations of phenylalanine in the blood. The body begins to eliminate the excess phenylalanine and this produces toxins which adversely affect brain development. The person can suffer form mental problems and learning difficulties. That said, PKU can be diagnosed early with a simple blood test at birth. If a person is found to have PKU they can follow a low protein diet, to avoid taking in more phenylalanine. This involves eliminating foods such as meats, cheese and milk.
Newborn Blood Screening (for 39 disorders, including PKU): 🤍 Before you and your baby leave the hospital after birth, your baby will undergo PKU testing. This involves obtaining several drops of blood from your baby's heel, and then applying it to a filter paper. This is then sent to the state lab in ARUP for further testing. A second test will be done with your pediatrician at your baby's 2 week appointment in the office. These tests are really important and are looking for 39 different genetic, metabolic, and hemoglobin conditions. If these conditions are found (and they are rare), they can be life-threatening, and so early intervention is key. Specific treatments for them may include special diets, special formulas, and medication. If left untreated, children with these conditions may have developmental delays, severe anemia, sepsis, and even death. Other things that are screened for are genetic disorders like sickle cell anemia and cystic fibrosis. If these genetic problems are found, then the parents are referred to a genetic counselor who can talk to them about plans for their children and their children's children in the future. After your baby has their PKU test done, follow up with your pediatrician's office, and they'll be able to give you the results. If any abnormalities are seen, then you can expect the nurses at the Utah Department of Health to work with you and your pediatrician to make sure that your child has the best and most current care possible. If you would like more information on the topic, you can visit the website below (🤍 And if you have more questions for me in the future, feel free to ask them on our Facebook page at 🤍 and recommend us to your friends and family too.
In this video, you will hear from Jennifer, PKU patient, as she provides her experiences and shares her stories on how she maintained low Phe levels during pregnancy and had a successful outcome. You will also hear from Dr. Shawn McCandless and Laurie Bernstein, MS, RD, FADA, FAND from Children’s Hospital Colorado IMD Clinic who provide the clinical perspective for treating PKU.
A Fenilcetonúria é uma doença genética rara que não tem cura e pode ser detectada no teste do Pezinho. O problema congênito está diretamente relacionado à ingestão de proteínas, excluindo obrigatoriamente do cardápio do paciente, alimentos que contenham fenilalanina, como carne vermelha, frango, peixe, feijão, leite e laticínios. Conheça mais sobre a jornada desses indivíduos por meio da campanha Lembre De Mim PKU 🤍lembredemimpku.com.br, iniciativa que tem o apoio da Associação Mães Metabólicas e da Federação Brasileira das Associações das Doenças Raras - Febrararas. Acompanhe o depoimento de quem tem Fenilcetonúria e lida diariamente com os desafios impostos pela doença. #LembreDeMimPKU #MuitosSomosRaros #DoençasRaras #Fenilcetonúria #MovimentoRaro #OTratamentoNãoPodeParar
Phenylketonuria (PKU) is an inborn error of metabolism. Elyse explains the condition for the perspective of a child with the disorder.
In this video, you will hear from Jessica, PKU patient, as she provides her experiences and shares her stories on how she successfully treats her PKU with PALYNZIQ. You will also hear from Dr. Shawn McCandless and Laurie Bernstein, MS, RD, FADA, FAND from Children’s Hospital Colorado IMD Clinic who provide the clinical perspective for treating PKU.
In this video, you will hear from Gabe, PKU patient, as he provides his experiences and shares insights on how he successfully managed his PKU transitioning into adulthood. You will also hear from Dr. Shawn McCandless and Laurie Bernstein, MS, RD, FADA, FAND from Children’s Hospital Colorado IMD Clinic who provide the clinical perspective for treating PKU.
RAISING A CHILD WHO HAS PKU: How two moms, with sons born 20 years apart, learned to cope.
Parents provide a glimpse into their shared PKU journey with teenage daughter, Ellis. From the uncertain feelings they started with at the moment of diagnosis to the proud parents of a thriving teenager they are today.
Easy-to-follow educational tool for families with infants diagnosed with phenylketonuria (PKU). The video shares the basics of what the disorder is, how to properly manage it, and the genetics behind the disorder. Please note that MedicalFood.com is now called NutriciaMetabolics.com. Please note that the Loprofin and Milupa brand products are discontinued.
Gerald Vockley, MD, PhD, Head of the Division of Medical Genetics at UPMC Children’s Hospital of Pittsburgh, discusses new data testing a probiotic to treat individuals with phenylketonuria (PKU). PKU is a rare genetic metabolic disorder that results in reduced activity of phenylalanine hydroxylase that leads to an accumulation of phenylalanine in the body, which can cause significant organ damage, especially in the central nervous system. If left untreated, PKU patients can develop chronic intellectual, neurodevelopmental, and psychiatric disabilities, as well as seizures and heart problems. SYNB1934 is engineered probiotic bacteria (E. coli Nissle) designed to allow the bacteria to convert phenylalanine into non-toxic metabolites in the intestines, and thereby allow people with PKU to eat a less restrictive diet. As Dr. Vockley explains, the data from the phase 2 study showed SYNb1934 to display clinically meaningful reductions in levels of plasma phenylalanine. A second preparation tested in the phase 2 study, SYNB1618, was also effective but to a lesser extent. A Phase 3 study is expected to begin in 2023.
Meet Josh, an active and intelligent high school student living with a rare disease. He was diagnosed as an infant with PKU, a deficiency in which individuals cannot properly metabolize protein. However, he has not let his condition stop him from exceling both in the classroom and on the soccer field. BioMarin is proud to support PKU patients like Josh. BioMarin is a global biotechnology company focused on developing first-in-class and best-in-class therapeutics that provide meaningful advances to patients who live with serious and life-threatening rare genetic diseases. 🤍 🤍 🤍 🤍
PKU is een zeldzame, erfelijke stofwisselingsziekte. De behandeling bestaat uit een eiwitbeperkt dieet. De dietiste speelt een grote rol. Hier hoort u van een ervaren dietste wat de dietist doet op het gebied van PKU. Wist u dat de Stichting PKU research (🤍pku-research.nl) zich bezig houdt met initieren en stimuleren van onderzoek naar PKU? Wist u dat de Nederlandse PKU vereniging zich bezighoudt met voorlichting, belangenbehartiging en lotgenotencontact voor PKU patienten? 🤍pkuvereniging.nl
The PKU community answers frequently asked questions about the basic science of PKU, symptoms of high blood phenylalanine (Phe) levels, helpful resources, and best practices for managing PKU.
Ten years ago, there was only one company in the PKU drug development space. Now there are over 20 companies that have a development program or have expressed an interest in PKU drug development. Betsy Bogard provides insight into how PKU could be treated in the future.
The Royal Melbourne Hospital Metabolic Diseases Unit (MDU) has been looking after six mums who managed PKU (Phenylketonuria) through their pregnancies. PKU is a condition that affects the way the body processes protein, it requires an incredibly strict diet.
In this video presentation, we will be discussing blood glucose and PKU testing procedures. Preparing phlebotomy students for their state exam and training them with a correct understanding of CLEA, CLSI, OSHA and HIPPA procedures.
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